Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs886037745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs886037745(-;TGTACTGC)
Make rs886037745(TGTACTGC;TGTACTGC)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position49861264
GenePNKP, PTOV1-AS2
is asnp
is mentioned by
dbSNPrs886037745
dbSNP (old)rs886037745
ClinGenrs886037745
ebirs886037745
HLIrs886037745
Exacrs886037745
Gnomadrs886037745
Varsomers886037745
Maprs886037745
PheGenIrs886037745
Biobankrs886037745
1000 genomesrs886037745
hgdprs886037745
ensemblrs886037745
gopubmedrs886037745
geneviewrs886037745
scholarrs886037745
googlers886037745
pharmgkbrs886037745
gwascentralrs886037745
openSNPrs886037745
23andMers886037745
23andMe allrs886037745
SNPshotrs886037745
SNPdbers886037745
MSV3drs886037745
GWAS Ctlgrs886037745
Max Magnitude0
ClinVar
Risk rs886037745(TGTACTGC;TGTACTGC)
Alt rs886037745(TGTACTGC;TGTACTGC)
Reference Rs886037745(-;-)
Significance Pathogenic
Disease Ataxia-oculomotor apraxia 4
Variation info
Gene PNKP PTOV1-AS2
CLNDBN Ataxia-oculomotor apraxia 4
Reversed 1
HGVS NC_000019.9:g.50364521_50364522insGCAGTACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000167525.4,